Canonical Allele Identifier: CA351999834

Gene: GLB1

Linked Data

• MyVariant Identifiers: chr3:g.33038552C>G (hg19) ; chr3:g.32997060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.32997060C>G , CM000665.2:g.32997060C>G	GRCh38
NC_000003.11:g.33038552C>G , CM000665.1:g.33038552C>G	GRCh37
NC_000003.10:g.33013556C>G	NCBI36
NG_009005.1:g.105143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307363.10:c.2019G>C MANE Select	ENSP00000306920.4:p.Trp673Cys
ENST00000307363.9:c.2019G>C	ENSP00000306920.4:p.Trp673Cys
ENST00000307377.12:c.1626G>C	ENSP00000305920.8:p.Trp542Cys
ENST00000399402.7:c.1929G>C	ENSP00000382333.2:p.Trp643Cys
NM_000404.2:c.2019G>C	NP_000395.2:p.Trp673Cys
NM_000404.3:c.2019G>C	NP_000395.2:p.Trp673Cys
NM_001079811.1:c.1929G>C	NP_001073279.1:p.Trp643Cys
NM_001079811.2:c.1929G>C	NP_001073279.1:p.Trp643Cys
NM_001135602.1:c.1626G>C	NP_001129074.1:p.Trp542Cys
NM_001135602.2:c.1626G>C	NP_001129074.1:p.Trp542Cys
NM_001317040.1:c.2163G>C	NP_001303969.1:p.Trp721Cys
NM_000404.4:c.2019G>C MANE Select	NP_000395.3:p.Trp673Cys
NM_001079811.3:c.1929G>C	NP_001073279.2:p.Trp643Cys
NM_001135602.3:c.1626G>C	NP_001129074.2:p.Trp542Cys
NM_001317040.2:c.2163G>C	NP_001303969.2:p.Trp721Cys
NM_001393580.1:c.1734+16996G>C	NP_001380509.1:n.1734+16996G>C